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Am J Med Genet A. 2007 Dec 1;143A(23):2810-4.

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Author information

1
Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

Abstract

We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial lipodystrophy, insulin-resistant diabetes, acanthosis nigricans, liver steatosis, muscle weakness, and contractures. This phenotype has features of both types 1 and 2 familial partial lipodystrophy. The sister and father of the proband had the same mutation. The sister was more mildly affected and the father was apparently unaffected, demonstrating variable expressivity and reduced penetrance for this mutation.

PMID:
18041775
DOI:
10.1002/ajmg.a.32046
[Indexed for MEDLINE]

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